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Chronic Myeloproliferative Neoplasm, Rare Types

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Precision Molecular Pathology of Myeloid Neoplasms

Part of the book series: Molecular Pathology Library ((MPLB,volume 12))

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Abstract

Chronic neutrophilic leukemia (CNL) and chronic eosinophilic leukemia (CEL) are rare types of BCR/ABL1-negative myeloproliferative neoplasms characterized by neoplastic proliferation of neutrophilic granulocytes and eosinophilic granulocytes, respectively. Patients with CNL present with sustained proliferation of segmented neutrophils in blood and proliferation of neutrophilic granulocytes in bone marrow. Nearly all CNL patients possess somatic activating mutations in CSF3R gene, which is included as a new diagnostic criterion in the recent revision of WHO classification of hematolymphoid neoplasms. Diagnosis of CEL is based on sustained eosinophilia in blood and proliferation of eosinophils and precursors in bone marrow with either increase in blasts or demonstration of clonality. Recent studies have shown genomic abnormalities in up to 50% CEL. However, unlike CNL, no single recurrent-mutated gene was detected in CEL. The commonly noted mutations are ASXL1, TET2, EZH2, CBL1, and NOTCH1, which are likely not disease specific for CEL. Target therapies on CSF3R are currently under investigation.

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Authors and Affiliations

  1. Department of Pathology, Anatomy and Cell Biology, Thomas Jefferson University, Philadelphia, PA, USA

    Jerald Z. Gong MD & Guldeep K. Uppal MD

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  1. Jerald Z. Gong MD
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  2. Guldeep K. Uppal MD
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Correspondence to Jerald Z. Gong MD .

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Editors and Affiliations

  1. Department of Pathology, Florida Hospital, University of Central Florida, Orlando, Florida, USA

    Chung-Che (Jeff) Chang

  2. Department of Pathology, Stanford University, Stanford, California, USA

    Robert S. Ohgami

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Gong, J.Z., Uppal, G.K. (2018). Chronic Myeloproliferative Neoplasm, Rare Types. In: Chang, CC., Ohgami, R. (eds) Precision Molecular Pathology of Myeloid Neoplasms. Molecular Pathology Library, vol 12. Springer, Cham. https://doi.org/10.1007/978-3-319-62146-3_10

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  • DOI: https://doi.org/10.1007/978-3-319-62146-3_10

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